Article
Molecular analysis of human muscular dystrophies.
Muscle & nerve - 1 Jan 2000
Davies K E, Forrest S, Smith T, Kenwrick S, Ball S, Dorkins H, Patterson M
Abstract excerpt
The ability to map disease loci using restriction fragment length polymorphisms (RFLPs) identified by DNA probes has revolutionized molecular genetics. Duchenne and Becker muscular dystrophies have been shown to be localized within the same very small region of Xp21 on the human X chromosome. The mutation itself should soon be identified at the DNA level, which will permit a detailed analysis of the molecular...
Topics
- Chromosome Mapping
- Chromosomes, Human, Pair 19
- Genes, Recessive
- Genetic Markers
- Humans
- Muscular Dystrophies
- Mutation
- Myotonic Dystrophy
- Pedigree
- Polymorphism, Restriction Fragment Length
- X Chromosome